BPSU - Pierre Robin Sequence in the UK & ROI

Surveillance of Pierre Robin Sequence in the UK and ROI commenced in January 2016. The study team is hoping to identify the birth prevalence of Pierre Robin Sequence, outline its clinical presentation, initial management and 12 month clinical outcomes. The study is being led by Dr Marie Wright, winner of the Sir Peter Tizard Bursary 2014-15.

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Lead investigator

Dr Marie Wright
Royal Brompton Hospital
Sydney Street
London SW3 6NP
 

Overview

Pierre Robin Sequence (PRS) is a condition present from birth with three main features: a small lower jaw (micrognathia), backward positioned tongue (glossoptosis), and defect of the roof of the mouth (cleft palate). Together, these abnormalities cause a narrowing of the pharyngeal space, which may lead to upper airway obstruction. Typically, this causes breathing and feeding difficulties in the neonatal period and early childhood. Mild cases can be managed by nursing the infant in a position that best opens the airway, and by using specialised feeding bottles. More severe cases may need temporary feeding tube or artificial airway placement, whilst those worst affected require surgical procedures to maintain a safe airway until ‘catch-up growth' of the mandible occurs.

The aetiology of PRS is not fully understood, but is likely to be multifactorial including genetic factors and exposure to toxins or compressive forces in-utero.

PRS diagnosis has far-reaching consequences for affected children, their families, and responsible healthcare teams. Infants often spend many weeks in hospital and need long-term support from a large multidisciplinary team. Failure to optimally manage breathing and feeding problems can cause respiratory failure and poor growth. Long-standing airway obstruction can result in impaired oxygen delivery, leading to right heart failure and neurodevelopmental problems.

There is currently little research evidence available regarding the extent of the problem posed by PRS, or how best to manage it. Data regarding its incidence are limited, and no UK epidemiological studies of PRS have been published for over 30 years. Management is currently variable between treatment centres, with no evidence-based guidelines in place to standardise clinical practice.

Case definition

Please report any live-born infant, born in the UK or ROI seen during the last month with the following clinical features: 

  • Cleft palate
AND
  • Micrognathia/ retrognathia or glossoptosis
AND
  • Evidence of resulting compromise, with at least one of the following features:
  1. Signs of upper airway obstruction
  2. Feeding difficulties 
  3. Faltering growth (loss of >10% birth weight in the first week of life, or fall across two centile lines on a standardised growth chart)

Duration

January 2016 to January 2017 (13 months of surveillance). Follow-up until January 2018 (12 month follow-up).

Funding

This study is being funded through the Sir Peter Tizard Bursary.

Ethical approval

This study has been approved by NRES South East Scotland Research Ethics Committee 2 (REC reference: 15/SS/0049; IRAS project ID: 161997) and has been granted Section 251 HRA-CAG permission (CAG Reference: 15/CAG/0141).

Support group

Further information

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